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Article

Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.

Orphanet journal of rare diseases - 12 Mar 2014

Mikelonis Dawn, Jorcyk Cheryl L, Tawara Ken, Oxford Julia Thom

Abstract excerpt

Stüve-Wiedemann syndrome (STWS; OMIM #610559) is a rare bent-bone dysplasia that includes radiologic bone anomalies, respiratory distress, feeding difficulties, and hyperthermic episodes. STWS usually results in infant mortality, yet some STWS patients survive into and, in some cases, beyond adolescence. STWS is caused by a mutation in the leukemia inhibitory factor receptor (LIFR) gene, which is inherited in an...

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Source

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Identifiers

PMID: 24618404
DOI: 10.1186/1750-1172-9-34
PMCID: PMC3995696

Genes

LIFR
STAT3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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